Varaico: Literature-Extracted Genetic Variants

Gene:PAX9
Variant:p.G51S

PAX9

214 papers

RefSeq Summary

This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These g...

Pfam Domains

PAXaa 4–128UCSC'Paired box' domain

Gene Aliases

HGNC Name

paired box 9

HGNC Previous Name

paired box gene 9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
33 papers
NM_001372076.1
p.G51S
c.151G>A
Surrounding Variants
1 paper
NM_001372076.1
p.G51R
c.151G>C
1 paper
NM_001372076.1
p.G51C
c.151G>T
7 papers
NM_001372076.1
p.G51A
c.152G>C
1 paper
NM_001372076.1
p.G51V
c.152G>T
1 paper
NM_001372076.1
p.C52W
c.156C>G
10 papers
NM_001372076.1
p.S49L
c.146C>T
1 paper
NM_001372076.1
p.C52C
c.156C>T
1 paper
NM_001372076.1
p.V53L
c.157G>C
1 paper
NM_001372076.1
p.S49fs
c.145_146fs
5 papers
NM_001372076.1
p.S49delFs
c.146delC
4 papers
NM_001372076.1
p.S49fs
c.145_146fs
1 paper
NM_001372076.1
p.S54G
c.160A>G
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